Canonical Allele Identifier: CA413664940

Gene: NEXMIF

Linked Data

• ClinVar Variation Id: 1325629
• ClinVar RCV Id: RCV001785235
• dbSNP Id: rs1181632862
• MyVariant Identifiers: chrX:g.73960692C>A (hg19) ; chrX:g.74740857C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.74740857C>A , CM000685.2:g.74740857C>A	GRCh38
NC_000023.10:g.73960692C>A , CM000685.1:g.73960692C>A	GRCh37
NC_000023.9:g.73877417C>A	NCBI36
NG_027726.1:g.189596G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000055682.12:c.3700G>T MANE Select	ENSP00000055682.5:p.Gly1234Ter
ENST00000616200.2:c.3700G>T	ENSP00000480284.1:p.Gly1234Ter
ENST00000642681.2:c.3700G>T	ENSP00000495800.1:p.Gly1234Ter
ENST00000055682.10:c.3700G>T	ENSP00000055682.5:p.Gly1234Ter
ENST00000616200.1:c.3700G>T	ENSP00000480284.1:p.Gly1234Ter
NM_001008537.2:c.3700G>T	NP_001008537.1:p.Gly1234Ter
XM_011530935.1:c.3700G>T	XP_011529237.1:p.Gly1234Ter
NM_001008537.3:c.3700G>T MANE Select	NP_001008537.1:p.Gly1234Ter